Dr. Julie R. Coleman is the Lead Bioinformatics Programmer of the All of Us Evenings with Genetics (AoUEwG) Research Program in the Department of Molecular of Human Genetics at Baylor College of Medicine (BCM). Her PhD is in Plant Breeding and Genetics from Texas A&M University, followed by working in the seed industry for five years in breeding Brassica genetics. She then transitioned to medicine and biotechnology, briefly working in the drug discovery industry with data science and software, before joining BCM in January 20222. While at BCM, she has focused on training biomedical researchers from across the United States on the All of Us Researcher Workbench through the AoUEwG’s annual All of Us Biomedical Researcher (BR) Scholars Program. She also provides continual data science support for these researchers as they complete their projects on the Researcher Workbench.

Dr. Shamika Ketkar is an Assistant Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine (BCM). She completed her doctoral training in Statistical and Human Genetics and masters training in Genetic Epidemiology from Washington University School of Medicine in St Louis Missouri (WashU). Her core research interests include understanding the genomics, transcriptomics and epigenomics of genetic disorders with an emphasis on rare undiagnosed diseases and cancers with a special focus on hematologic and bone cancers. She has a broad background in translational bioinformatics, genomics, and genetics with more than a decade of extensive experience in genomic data science at Harvard School of Public Health, WashU and BCM. She supports the All of Us Evening with Genetics Research Program as an educator and data scientist.

Dr. Jinyoung Byun is an Assistant Professor in the Institute of Clinical and Translational Research and Section of Epidemiology and Population Sciences, Department of Medicine, at Baylor College of Medicine (BCM). She completed her postdoctoral training at the Department of Biomedical Science in the Geisel School of Medicine at Dartmouth and joined BCM in 2018. Her research focuses on understanding genetic etiology in lung cancer, liver cancer, and rare diseases in diverse populations. She joined the All of Us Evening with Genetics Research Program in 2022 and has supported the Community Engagement Partners with the All of Us Research Program introduction sessions.

Dr. Stephen Mosher is a Research Scientist at Johns Hopkins University. He received his Masters degree from the University of Toronto in Canada and his doctorate from the University of Tübingen in Germany. Today, Dr. Mosher serves as a program manager on the AnVIL Project (https://anvilproject.org) and the Genomic Data Science Community Network (https://www.gdscn.org).

Elena Ghanaim is the Policy Advisor for Data Science and Sharing within the Office of Genomic Data Science (OGDS) at the National Human Genome Research Institute (NHGRI). She spearheads NHGRI’s scientific data sharing policy development, oversight, and implementation. 

Dr. Ava Hoffman is a Senior Staff Scientist at Fred Hutchinson Cancer Center where she is a member of the Fred Hutch Data Science Lab. She helps lead and develop outreach resources for the AnVIL Project (https://anvilproject.org) and the Genomic Data Science Community Network (https://www.gdscn.org). Her background is in genetics of non-model organisms and data science consulting for industry.

Dr. Anton Kovalsky is a Science Writer at the Broad Institute of MIT and Harvard. In this role, he authors and edits material for technical documentation, blog posts, how-to guides and workshop presentations. 

Frederick Tan is on the Bioinformatics Research Faculty at Carnegie Institution, Department of Embryology, and an Adjunct Assistant Professor at Johns Hopkins University, Department of Biology. He and his collaborators research mechanisms to effectively train and support diverse populations in genomic data science.

Dr. Ros Hastings is the Chair of The International System for Cytogenomic Nomenclature (ISCN) and has served on the committee since 2019. She is also a consultant for the Genomics Quality Assessment Scheme a global genomics ISO accredited proficiency testing (PT) provider operated by Oxford University Hospitals NHS Foundation Trust, Oxford. GenQA offers end to end genomic testing PTs from sample receipt, analysis, interpretation and reporting through to Clinical Genetic Counselling as well as training and competency educational resources.

Dr Hastings is a state registered clinical scientist and a Fellow of the Royal College of Pathologists. She has more than 35 years’ experience in constitutional (including prenatal), acquired and molecular cytogenomics, both in a research and diagnostic setting. Initially, Dr Hastings worked on research projects into cancer and immunological disorders at the Imperial Cancer Research Fund, London; the MRC Cytogenetics Unit, Edinburgh and the Cancer Research Campaign Laboratory, Christie Hospital, Manchester. She has also worked in four diagnostic Cytogenetics Laboratories within the UK. For past 20 years was the Director of an ISO accredited proficiency testing (PT) provider for cytogenomics and more latterly, genomics (CEQAS and GenQA).  She has previously served on the European Society for Human Genetics (ESHG) Board and the UK NEQAS Board. She was also the Chair of the ESHG Quality Committee and involved in the EU funded Eurogentest project.

Dr Hastings has authored many publications and book chapters on genetics, NIPT, PGD, ISCN and PT. In addition, she is an author on many best practice guidelines.

IS0 -International Organisation for Standardization

Dr. Laura Conlin is an Associate Professor of Pathology at The Perelman School of Medicine at the University of Pennsylvania and a Director in the Genomics Diagnostic Laboratory at the at The Children’s Hospital of Philadelphia. She is board certified by the American Board of Clinical Genetics and Genomics in both Cytogenetics and Molecular Genetics.  She is a member of several professional organizations, including the American Society of Human Genetics, the American College of Medical Genetics and Genomics, and the American Cytogenomics Conference.  She has served on the ACMG/CAP Cytogenetics Resource Committee, and currently serves on the ACMG/CAP Biochemical and Molecular Genetics Committee and on the NIGMS Human Genetic Cell Repository Scientific Advisory Committee.   She is an active member of the ClinGen Recurrent CNVs Dosage Sensitivity and the Low Penetrance/Risk Allele working groups. She has been a member of the Standing Committee for the International System for Human Cytogenomic Nomenclature (ISCN) since 2019.   

Dr. Conlin’s clinical roles involve genome-wide diagnostics in a pediatric setting, using genome-wide platforms including, SNP array platform and short read next generation sequencing, to identify and report pathogenic copy number and structural variants. Her research focuses on understanding the mechanisms of genomic alterations, with a particular interest in mosaicism and structural variation, and how to improve detection of clinically relevant structural variation using various technologies, including long-read genome sequencing and other third-generation sequencing methodologies, with the goal of implementation of these technologies into clinical diagnostic testing.

Dr. Jean McGowan-Jordan is the Head and Laboratory Director of the CHEO Genetics Diagnostic Lab, which is an integrated regional lab with both Cytogenomic and Molecular Genetics sections. She is a Professor in the Department of Pathology and Laboratory Medicine at the University of Ottawa.  After completing fellowships in Molecular Genetics and Cytogenetics in Ottawa and Kingston Ontario, she was credentialed in both specialties through the Canadian College of Medical Geneticists (CCMG) in 2002, and has gone on to be the primary supervisor for numerous CCMG Cytogenetics Fellows. Recently, her lab introduced a stand-alone clinical test for Facioscapulohumeral Muscular Dystrophy using Optical Genome Mapping. 

Regionally, Dr. McGowan-Jordan has worked on the Genetics Scientific Committee of the Ontario Quality Management Program – Laboratory Services, and as Chair of the CHEO/University of Ottawa CCMG Fellowship Committee.  At a national level, she has served on the CCMG Board of Directors, the CCMG Genetics and Genome Diagnostics Working Group, and Cytogenetics Committee. Internationally, Dr. McGowan-Jordan was Chair of the Standing Committee for the International System for Human Cytogenomic Nomenclature (ISCN) from 2013 to 2020, serving as lead editor of ISCN 2016 and ISCN 2020. She is currently an Advisor to this group.

Dr. Cynthia Casson Morton is the William Lambert Richardson Professor of Obstetrics, Gynecology and Reproductive Biology and Professor of Pathology at Harvard Medical School, Kenneth J. Ryan, M.D. Distinguished Chair in Obstetrics and Gynecology, Director of Cytogenetics and Past Director of the Biomedical Research Institute at Brigham and Women’s Hospital. Dr. Morton is an Institute Member of the Broad Institute. She holds a part-time faculty position as Chair in Auditory Genetics at the University of Manchester, UK.

Dr. Morton is certified by the ABMGG in Ph.D. Medical Genetics, Clinical Cytogenetics and Clinical Molecular Genetics. She is a past member of the Board of Directors of the ABMGG where she served as Secretary, Treasurer and Chair of the Accreditation Committee. She was Chair of the Molecular Genetic Pathology Policy and Exam Committees of the ABMGG and the American Board of Pathology. Dr. Morton was a member of the Board of Directors of the ASHG for 12 years and served as the 2014 President. She completed a six-year tenure as Editor of The American Journal of Human Genetics and is currently Co-Editor of Human Genetics. She served as an Advisor to the Committee for the International System in Human Cytogenomics Nomenclature (ISCN) in 1994 and in 2018 was elected as a Member of the Standing Committee. Dr. Morton is a recipient of the Distinguished Cytogeneticist Award from the American Cytogenetics Conference (ACC) and is a Fellow of the AAAS.

Dr. Paul W. Hook received his Bachelor of Science degree in Biochemistry and Molecular Biology from the Pennsylvania State University in 2012. He went on to earn his PhD in Human Genetics from Johns Hopkins University School of Medicine in 2020, where his thesis work focused on pinpointing the genes and variants underlying genome-wide association signals through the use of genomic data from disease-relevant cell populations. Dr. Hook joined Winston Timp’s lab as a postdoctoral fellow in the Department of Biomedical Engineering at Johns Hopkins University in the summer of 2020. In this role, his work has focused on the development and application of new approaches for measuring different aspects of epigenetics by using long-read sequencing, including chromatin state, DNA methylation, and protein-DNA binding.

Minna Kaikkonen-Määttä obtained her Bachelor's degree in Cellular Biology and Physiology from the Claude Bernard University Lyon 1, France, in 2002 and Master’s degree in Molecular Biology from University of Jyväskylä, Finland, in 2005. She obtained her PhD in Molecular Medicine under the supervision of Prof. Seppo Ylä-Herttuala in Kuopio in 2008. Her doctoral studies were focused on “Engineering Baculo- and Lentiviral Vectors for Enhanced and Targeted Gene Delivery”. She did her postdoctoral studies with Prof. Christopher Glass at University of California San Diego where she shifted her research focus into transcriptional gene regulation and enhancer RNAs supported by the Young Investigator Award from Leducq Foundation. She started her own lab in 2015 at the University of Eastern Finland with a focus on gene and cell level understanding of atherosclerosis using state-of-the-art next generation sequencing methods. Currently she is a Professor in Cardiovascular Genomics and runs a lab of 20 members while acting as a Vice Director of the A.I.Virtanen Research Institute and a Director of the Single Cell Genomics Core. She has published 95 peer-reviewed articles with ~5000 citations (H-index 32). She has received over 6 million in research funding and is currently supported by the European Research Council Starting Grant, Academy of Finland, Finnish Foundation for Cardiovascular Research and Sigrid Juselius Foundation. She is the President of the Finnish Society of Atherosclerosis and member of the board of European Vascular Biology Organisation, Scandinavian Society of Atherosclerosis, and Membership Engagement Committee of the American Society of Human Genetics. 

Dr. Augusto Rojas-Martinez is a Senior Researcher and Professor at The Institute for Obesity Research at Tecnologico de Monterrey, Mexico. He is a physician with M.Sc. and D.Sc. degrees in Human Genetics and Molecular Biology. He did his postdoc in Gene and Cell Therapy at Baylor College of Medicine and was an honorary professor at the University of Texas Health Science Center at San Antonio, TX. Dr. Rojas-Martinez led the first efforts of preclinical and clinical gene therapy in Mexico and Latin-America. He is certified by the Mexican Council of Genetics. Dr. Rojas-Martinez is affiliated to the Mexican System of Researchers, the National Academy of Medicine of Mexico, and the Mexican Academy of Sciences. He is past-president of the Mexican Association of Human Genetics and the Latin American Network of Human Genetics.

Doug is Director of the Professional Development and Career Office at Johns Hopkins University. He supports trainees and post-doctoral fellows as they explore their career options and identify new career-building skillsets. He received his Ph.D. in Genetics from the Pennsylvania State University, College of Medicine and completed postdoctoral training at the National Institute on Aging, where he studied the molecular basis of health disparities. In 2017, Doug was appointed Assistant Professor of Biology at Morgan State University, where he led a research program investigating the social determinants of cardiovascular health disparities in Baltimore City. Doug has a successful record of mentoring young scientists and has a long-standing interest in the professional development of trainees, having served on training committees for the Federation of American Societies for Experimental Biology and the American Society of Human Genetics. In addition, Doug is an accomplished science writer and editor, most recently holding the position of senior science writer and editor in the Office of Communications and Public Liaison at the National Institute of Minority Health and Health Disparities, NIH.

Dr. Shah is a Clinical Geneticist at Dartmouth Health Children’s, as well as the Assistant Director of Center for Clinical Genomics and Advanced Technology (CGAT) in the Department of Pathology at Dartmouth Health. She completed her Pediatrics residency at Nassau University Medical Center in Long Island, NY, followed by Clinical Genetics fellowship at Boston Children’s Hospital/ Harvard Medical School Genetics Training Program. Her research interests focus on bioinformatics pipeline development for germline analysis of exomes and genomes, as well as implementation of precision medicine in primary care through the lifetime. She is an integral part of the NIH funded Babyseq project, the first-of-its-kind randomized clinical trial designed to examine the medical, social, and economic impacts of integrating genomic sequencing into the clinical care of newborns. 

Casie Genetti, MS, CGC is a senior genetic counselor and project manager at Boston Children’s Hospital. She obtained her undergraduate degree from Davidson College and received her Master of Science in Genetic Counseling from Boston University Medical School in 2015.  Casie works with The Manton Center for Orphan Disease Research, The Beggs Congenital Myopathy Research Program, and The BabySeq Program at Boston Children’s Hospital focusing on rare disease diagnosis and the implementation of genomic sequencing in infancy.